From
StayCurrentMD
Update Course Rewind 2025: Hirschsprung + ARM: Rare but Real
hosted by Dr. Jill Knepprath
Chapter 1 of 3 · Fundamentals
Introduction and Clinical Scenario
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Educational content from recorded physician discussions — not medical advice. Talk to your (or your child's) care team about your situation.
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What the experts said
A single-center study examined rectal fistula specimens obtained during posterior sagittal anorectoplasty (PSARP) procedures
Rectal fistula tissue is not physiologic tissue
Patients with both Hirschsprung disease and ARM tend to have chromosomal anomalies
Chromosomal anomalies associated with both conditions include trisomy 21 and Pallister-Killian syndrome
The rate of Hirschsprung disease and anorectal malformation occurring together is less than 2%
The co-occurrence of Hirschsprung disease and ARM is something to keep in mind for patients with trisomy 21
Ganglion cells were found in 91% of rectal fistula specimens
Hypo or absent ganglion cells were found in the remaining rectal fistula specimens
Absent ganglion cells in fistula tissue does not necessarily mean the patient has Hirschsprung disease
Three patients (4% of the study cohort) had both Hirschsprung disease and anorectal malformation
Two of the three patients with both conditions had trisomy 21
Complex anorectal malformation patients with chromosomal anomalies who do not respond to laxatives or enemas should be worked up for Hirschsprung disease